Mònica Coll, Mireia Alcalde, Anna Fernández-Falgueras, Anna Iglesias, Laia Nogué-Navarro, Coloma Tiron, Oscar Campuzano, Marisa Ortega, Santiago Crespo, Eneko Barberia, Ramon Brugada
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Value of Molecular Autopsy in Suspected Sudden Cardiac Death in the Young.
Genetic testing, as part of the medicolegal autopsy in cases of suspected sudden cardiac death, has been recommended for several years; however, it is rarely performed. The aim was to assess the value of postmortem genetic testing in unexplained sudden death in the young. This is a prospective study including all cases with unexplained natural sudden death cases in individuals aged ≤50 years undergoing a legal autopsy. Postmortem genetic testing was routinely performed in cases aged <35 years and aged >35 years only when no cause of death was identified or there was suspicion of a possible inherited cardiac phenotype after a complete autopsy. In cases aged <35 years, genetic testing showed a positivity rate of 7.6%. The most striking finding has been the positivity rate of thoracic aorta aneurysms and myocarditis cases at 33%. In cases between the ages of 36 and 50 years, the positivity rate was 4.9%. If we were to approach this group with direct genetic analysis, as we did with the younger cohort, the yield of positive genetic testing would decrease to 2.5%. This is the largest study of postmortem genetic testing in the young to date, and the first to address its value in consecutive cases, free of selection bias.
期刊介绍:
The Journal of Molecular Diagnostics, the official publication of the Association for Molecular Pathology (AMP), co-owned by the American Society for Investigative Pathology (ASIP), seeks to publish high quality original papers on scientific advances in the translation and validation of molecular discoveries in medicine into the clinical diagnostic setting, and the description and application of technological advances in the field of molecular diagnostic medicine. The editors welcome for review articles that contain: novel discoveries or clinicopathologic correlations including studies in oncology, infectious diseases, inherited diseases, predisposition to disease, clinical informatics, or the description of polymorphisms linked to disease states or normal variations; the application of diagnostic methodologies in clinical trials; or the development of new or improved molecular methods which may be applied to diagnosis or monitoring of disease or disease predisposition.